Opérer ou non une lésion atypique du sein ? Prise en compte de l’anxiété dans l’aide à la décision partagée à partir d’une cohorte prospective de 300 patientes

INTRODUCTION: Organized and individual breast screening have been accompanied by an increase in the detection of "atypical breast lesions "(ABL). Recently, the NOMAT multicenter study proposed a predictive model of the risk of developing breast cancer after detection of an ABL in order to avoid surgical removal of "low-risk" lesions. It also aimed to provide information on psychological experience, in particularly anxiety, to assist in the shared medical decision process. METHODS: Three hundred women undergoing surgery for ABL were included between 2015 and 2018 at 18 French centers. Women completed questionnaires before and after surgery assessing their level of anxiety (STAI-State, STAI-Trait), their level of tolerance to uncertainty, their perceived risk of developing a breast cancer, and their satisfaction with the management care. RESULTS: One hundred nighty nine patients completed the STAI-Status before and after surgery. Overall, a decrease in anxiety level (35.4 vs 42.7, p<0.001) was observed. Anxious temperament and greater intolerance to uncertainty were significantly associated swith decreased anxiety (33%), whereas younger age was associated with increased anxiety (8%). CONCLUSION: Surgery for ABL seems to be associated with only a few cases with an increase in anxiety and seems to increase the perception of the risk of developing breast cancer. Taking into account the psychological dimension remains in all cases essential in the process of shared therapeutic decision.INTRODUCTION: Les dépistages mammaires organisés et individuels se sont accompagnés d’une augmentation de la détection de lésions « frontières » (LF). Récemment, l’étude multicentrique NOMAT a proposé un modèle prédictif du risque de développer un cancer après détection d’une LF afin d’éviter l’exérèse chirurgicale de lésions à « bas risque ». Elle avait également pour objectif de renseigner le vécu psychologique, notamment l’anxiété, afin d’orienter le processus de décision médicale partagée. MATÉRIELS ET MÉTHODES : Trois cents femmes opérées pour une LF du sein ont été incluses entre 2015 et 2018 dans 18 centres français. Les femmes remplissaient avant et après chirurgie des questionnaires évaluant leurs niveaux d’anxiété situationnelle et habituelle (STAI-Etat et Trait) et d’intolérance à l’incertitude, leur perception du risque de développer un cancer et leur satisfaction vis-à-vis de la prise en charge. RÉSULTATS : Cent quatre-vingt-dix-neuf femmes ont complété le STAI-Etat avant et après chirurgie. Globalement, une diminution du niveau d’anxiété (35,4 vs. 42,7, p < 0,001) a été observée. Un tempérament anxieux et une plus grande intolérance à l’incertitude étaient significativement associés à une diminution de l’anxiété (33 % des femmes), tandis qu’un plus jeune âge était associé à une augmentation de l’anxiété (8 % des femmes). CONCLUSION : La chirurgie des LF ne semble s’associer que dans très peu de cas à une augmentation de l’anxiété et ne fait évoluer qu’à la marge la perception du risque de développer un cancer. La prise en compte de la dimension psychologique reste dans tous les cas essentielle dans la décision médicale partagée

Prospective Multicenter Study Validate a Prediction Model for Surgery Uptake Among Women with Atypical Breast Lesions

International audienceBackground: Diagnosis of atypical breast lesions (ABLs) leads to unnecessary surgery in 75-90% of women. We have previously developed a model including age, complete radiological target excision after biopsy, and focus size that predicts the probability of cancer at surgery. The present study aimed to validate this model in a prospective multicenter setting.- methods: Women with a recently diagnosed ABL on image-guided biopsy were recruited in 18 centers, before wire-guided localized excisional lumpectomy. Primary outcome was the negative predictive value (NPV) of the model.Results: The NOMAT model could be used in 287 of the 300 patients included (195 with ADH). At surgery, 12 invasive (all grade 1), and 43 in situ carcinomas were identified (all ABL: 55/287, 19%; ADH only: 49/195, 25%). The area under the receiving operating characteristics curve of the model was 0.64 (95% CI 0.58-0.69) for all ABL, and 0.63 for ADH only (95% CI 0.56-0.70). For the pre-specified threshold of 20% predicted probability of cancer, NPV was 82% (77-87%) for all ABL, and 77% (95% CI 71-83%) for patients with ADH. At a 10% threshold, NPV was 89% (84-94%) for all ABL, and 85% (95% CI 78--92%) for the ADH. At this threshold, 58% of the whole ABL population (and 54% of ADH patients) could have avoided surgery with only 2 missed invasive cancers.Conclusion: The NOMAT model could be useful to avoid unnecessary surgery among women with ABL, including for patients with ADH

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

International audiencePeters' anomaly (PA) is a rare anterior segment dysgenesis characterized by central corneal opacity and irido-lenticulo-corneal adhesions. Several genes are involved in syndromic or isolated PA (B3GLCT, PAX6, PITX3, FOXE3, CYP1B1). Some copy number variations (CNVs) have also been occasionally reported. Despite this genetic heterogeneity, most of patients remain without genetic diagnosis. We retrieved a cohort of 95 individuals with PA and performed genotyping using a combination of comparative genomic hybridization, whole genome, exome and targeted sequencing of 119 genes associated with ocular development anomalies. Causative genetic defects involving 12 genes and CNVs were identified for 1/3 of patients. Unsurprisingly, B3GLCT and PAX6 were the most frequently implicated genes, respectively in syndromic and isolated PA. Unexpectedly, the third gene involved in our cohort was SOX2, the major gene of micro-anophthalmia. Four unrelated patients with PA (isolated or with microphthalmia) were carrying pathogenic variants in this gene that was never associated with PA before. Here we described the largest cohort of PA patients ever reported. The genetic bases of PA are still to be explored as genetic diagnosis was unavailable for 2/3 of patients. Nevertheless, we showed here for the first time the involvement of SOX2 in PA, offering new evidence for its role in corneal transparency and anterior segment development